因PiZ无效（Z-）表型导致α-1-抗胰蛋白酶缺乏的新生儿肝脏损伤。
Liver damage in a neonate with alpha-1-antitrypsin deficiency due to phenotype PiZ null (Z-).
作者信息
Burn J, Dunger D, Lake B
出版信息
Arch Dis Child. 1982 Apr;57(4):311-3. doi: 10.1136/adc.57.4.311.
Abstract
An infant with neonatal liver damage had α-1-antitrypsin deficiency, having inherited the Z allele from the father and the rare null allele from the mother. This indicates that while a lack of serum antiprotease predisposes to early liver disease, homozygosity for the Z allele is not essential.
摘要
一名患有新生儿肝损伤的婴儿存在α-1-抗胰蛋白酶缺乏症，其从父亲那里继承了Z等位基因，从母亲那里继承了罕见的无效等位基因。这表明，虽然血清抗蛋白酶缺乏易引发早期肝病，但Z等位基因的纯合性并非必要条件。
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